Partially methylated alleles, microdeletion, and tissue mosaicism in a fragile X male with tremor and ataxia at 30 years of age: A case report-Reference-Cited by-同舟云学术

Partially methylated alleles, microdeletion, and tissue mosaicism in a fragile X male with tremor and ataxia at 30 years of age: A case report

Published:2016-10-01 Issue:12 Volume:170 Page:3327-3332
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Hwang Yun Tae¹²,Aliaga Solange Mabel³⁴⁵,Arpone Marta³⁴,Francis David³,Li Xin³,Chong Belinda⁶,Slater Howard Robert³⁴,Rogers Carolyn⁷,Bretherton Lesley⁸⁹¹⁰,Hunter Matthew⁷¹¹,Heard Robert¹¹²,Godler David Eugeny³

Affiliation:

1. Department of Neurology; Gosford Hospital; Gosford New South Wales Australia

2. Institute of Neurology; University College London; London United Kingdom

3. Cyto-Molecular Diagnostic Research Laboratory; Victorian Clinical Genetics Services and Murdoch Childrens Research Institute; Royal Children's Hospital Melbourne Victoria Australia

4. Faculty of Medicine; Dentistry and Health Sciences; University of Melbourne; Parkville Victoria Australia

5. Molecular and Cytogenetics Laboratory; INTA University of Chile; Santiago Chile

6. Molecular Genetics Laboratory; Victorian Clinical Genetics Services and Murdoch Childrens Research Institute; Royal children's Hospital Melbourne Victoria Australia

7. Genetics of Learning Disability Service, Hunter Genetics; Waratah New South Wales Australia

8. Department of Psychology; Royal Children's Hospital; Melbourne Victoria Australia

9. Melbourne School of Psychological Sciences; University of Melbourne; Parkville Melbourne Australia

10. Child Neuropsychology; Murdoch Childrens Research Institute; Royal Children's Hospital; Melbourne Victoria Australia

11. Faculty of Medicine; University of Newcastle; Newcastle New South Wales Australia

12. Westmead Millennium Institute; University of Sydney; Westmead New South Wales Australia

Funder

Victorian Government's Operational Infrastructure Support Program

Murdoch Childrens Research Institute

Royal Children's Hospital Foundation

NHMRC Development Grant

Pierce Armstrong Trust

NHMRC Project Grant

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37954/fullpdf

Reference15 articles.

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2. Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion;Campuzano;Science,1996

3. Fragile X mental retardation 1 (FMR1) intron 1 methylation in blood predicts verbal cognitive impairment in female carriers of expanded FMR1 alleles: Evidence from a pilot study;Godler;Clin Chem,2012

4. Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio;Godler;Hum Mol Genet,2010

5. Advances in the treatment of fragile X syndrome;Hagerman;Pediatrics,2009

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